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Corbett, Mark A.; Kroes, Thessa; Veneziano, Liana; Bennett, Mark F.; Florian, Rahel; Schneider, Amy L.; Coppola, Antonietta; Licchetta, Laura; Franceschetti, Silvana; Suppa, Antonio; Wenger, Aaron; Mei, Davide; Pendziwiat, Manuela; Kaya, Sabine; Delledonne, Massimo; Straussberg, Rachel; Xumerle, Luciano; Regan, Brigid; Crompton, Douglas; van Rootselaar, Anne-Fleur; Correll, Anthony; Catford, Rachael; Bisulli, Francesca; Chakraborty, Shreyasee; [...]

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

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  • Medientyp: E-Artikel
  • Titel: Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
  • Beteiligte: Corbett, Mark A.; Kroes, Thessa; Veneziano, Liana; Bennett, Mark F.; Florian, Rahel; Schneider, Amy L.; Coppola, Antonietta; Licchetta, Laura; Franceschetti, Silvana; Suppa, Antonio; Wenger, Aaron; Mei, Davide; Pendziwiat, Manuela; Kaya, Sabine; Delledonne, Massimo; Straussberg, Rachel; Xumerle, Luciano; Regan, Brigid; Crompton, Douglas; van Rootselaar, Anne-Fleur; Correll, Anthony; Catford, Rachael; Bisulli, Francesca; Chakraborty, Shreyasee; [...]
  • Erschienen: Springer Science and Business Media LLC, 2019
  • Erschienen in: Nature Communications
  • Sprache: Englisch
  • DOI: 10.1038/s41467-019-12671-y
  • ISSN: 2041-1723
  • Schlagwörter: General Physics and Astronomy ; General Biochemistry, Genetics and Molecular Biology ; General Chemistry ; Multidisciplinary
  • Entstehung:
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  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>Familial Adult Myoclonic Epilepsy (FAME) is characterised by cortical myoclonic tremor usually from the second decade of life and overt myoclonic or generalised tonic-clonic seizures. Four independent loci have been implicated in FAME on chromosomes (chr) 2, 3, 5 and 8. Using whole genome sequencing and repeat primed PCR, we provide evidence that chr2-linked FAME (FAME2) is caused by an expansion of an ATTTC pentamer within the first intron of <jats:italic>STARD7</jats:italic>. The ATTTC expansions segregate in 158/158 individuals typically affected by FAME from 22 pedigrees including 16 previously reported families recruited worldwide. RNA sequencing from patient derived fibroblasts shows no accumulation of the AUUUU or AUUUC repeat sequences and <jats:italic>STARD7</jats:italic> gene expression is not affected. These data, in combination with other genes bearing similar mutations that have been implicated in FAME, suggest ATTTC expansions may cause this disorder, irrespective of the genomic locus involved.</jats:p>
  • Zugangsstatus: Freier Zugang